Canonical Allele Identifier: CA387002043
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295262A>T (hg19) chr12:g.121857356A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857356A>T , CM000674.2:g.121857356A>T GRCh38
NC_000012.11:g.122295262A>T , CM000674.1:g.122295262A>T GRCh37
NC_000012.10:g.120779645A>T NCBI36
NG_016461.1:g.36256T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.170T>A (HPD) MANE Select ENSP00000289004.4:p.Val57Glu
ENST00000535114.1:n.526T>A (HPD)
ENST00000542159.2:n.228T>A (HPD)
ENST00000543163.5:c.53T>A (HPD) ENSP00000441677.1:p.Val18Glu
NM_001171993.1:c.53T>A (HPD) NP_001165464.1:p.Val18Glu
NM_002150.2:c.170T>A (HPD) NP_002141.1:p.Val57Glu
XR_002957437.1:n.324-263A>T (TIALD)
NM_002150.3:c.170T>A (HPD) MANE Select NP_002141.2:p.Val57Glu
NM_001171993.2:c.53T>A (HPD) NP_001165464.1:p.Val18Glu
Search 100 bp 5'
Search 100 bp 3'